Linked Data
ClinVar Variation Id:
56039
ClinVar RCV Id:
RCV000049448
dbSNP Id:
rs386833520
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595100del , CM000671.2:g.6595100del | GRCh38 |
| NC_000009.11:g.6595100del , CM000671.1:g.6595100del | GRCh37 |
| NC_000009.10:g.6585100del | NCBI36 |
| NG_016397.1:g.55593del , LRG_643:g.55593del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1175del MANE Select | ENSP00000370737.4:p.Ala392ValfsTer25 | |
| ENST00000638654.1:c.422del | ENSP00000491101.1:p.Ala141ValfsTer? | |
| ENST00000639364.1:n.875del | ||
| ENST00000639443.1:n.743del | ||
| ENST00000639493.1:n.327del | ||
| ENST00000639954.1:n.883del | ||
| ENST00000640592.1:n.1058del | ||
| ENST00000321612.6:c.1175del | ENSP00000370737.3:p.Ala392ValfsTer25 | |
| ENST00000463305.1:n.259del | ||
| NM_000170.2:c.1175del , LRG_643t1:c.1175del | NP_000161.2:p.Ala392ValfsTer25 | |
| NM_000170.3:c.1175del MANE Select | NP_000161.2:p.Ala392ValfsTer25 |